Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Molecular genetics & genomic medicine - 1 Jul 2020

Khani Marzieh, Shamshiri Hosein, Fatehi Farzad, Rohani Mohammad, Haghi Ashtiani Bahram, Akhoundi Fahimeh Haji, Alavi Afagh, Moazzeni Hamidreza, Taheri Hanieh, Ghani Mina Tolou, Javanparast Leila, Hashemi Seyyed Saleh, Haji-Seyed-Javadi Ramona, Heidari Matineh, Nafissi Shahriar, Elahi Elahe

Abstract excerpt

BACKGROUND: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not be straight forward. METHODS: The DNAs of referred ARHSP and JALS patients were exome sequenced. Clinical data of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Corpus Callosum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Electrodiagnosis

Share to Genetic Testing

Share to Magnetic Resonance Imaging

Share to Proteins

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 32383541
DOI: 10.1002/mgg3.1240
PMCID: PMC7336765

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.PMID 32383541Read ↗

A case report of SPG11 mutations in a Chinese ARHSP-TCC family.Semantic proximity Read ↗

Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.Semantic proximity Read ↗

Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11Semantic proximity Read ↗

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.Semantic proximity Read ↗

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.Semantic proximity Read ↗

Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.Semantic proximity Read ↗

SPG11: clinical and genetic features of seven Czech patients and literature review.Semantic proximity Read ↗

Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family.Semantic proximity Read ↗

Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.Semantic proximity Read ↗

SPG11--the most common type of recessive spastic paraplegia in Norway?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.